Drug Development 101

Drug development for rare diseases is a long and expensive process. It can take a decade or longer and cost millions of dollars, and many candidate drugs fail along the way.

    Drug development usually begins in the laboratory, where researchers seek to gain new insights into a disease process. With a good understanding of the disease, researchers can then try to develop compounds that target the effects of the disease. Sometimes, drugs that have been developed for one disease may hold promise for treating other diseases.

    Researchers test promising compounds to find a dose that is safe and effective. These studies are usually done in animal models of the disease.

    Clinical trials test the drug in humans. Phase 1 trials are small and aim to determine how well the drug is tolerated. Phase 2 trials test the drug in a larger group of people to see if it is effective. Phase 3 trials test an even larger group of people to confirm the safety and efficacy of the new drug. For rare diseases, these phases can sometimes be combined.

    If the clinical trials are successful, then the drug can be submitted to a regulatory agency, such as the U.S. Food and Drug Administration (FDA) or the European Medicines Agency (EMA), for approval. The regulatory agency will review all the trial data when deciding if it should be approved for marketing. If approved, the regulatory agency will require the drug manufacturer to continue to monitor safety of the new drug.

    How We Accelerate Development

    For the last decade, C3 has been the U.S.-based nonprofit leader of funding for LGMD2A research. Learn how we work to accelerate drug development and increase the likelihood of an approved treatment.

    Initiate Discovery-Stage Research

    We award research grants to better understand how mutations in the Calpain 3 gene lead to muscle wasting. This facilitates the identification of new strategies for treating the disease.

    Enable Preclinical Studies

    We fund animal studies to determine if novel drugs are safe and effective in animal models. These are required before the drugs can be tested in patients. We have also initiated the development of six animal models of LGMD2A/R1, which are now publicly available and can be used by researchers for preclinical testing.

    Enhance Clinical Trial Readiness

    Clinical trials are only successful when they are properly designed to detect changes in the progress of disease symptoms. We fund studies to better understand disease trajectory (called ‘natural history’) and which clinical outcome assessments (measures that reflect how a patient functions) can be used in trials to measure changes.

    The C3-hosted LGMD2A/Calpainopathy Registry contributes to our knowledge of natural history and can support clinical trial recruitment.

    Engage Drug Developers and Regulators

    Nobody understands LGMD2A/R1 better than those of us living with it! We recently partnered with five other limb-girdle muscular dystrophy organizations to host an externally-led patient-focused drug development meeting that sought patient and caregiver insights into the burden of living with LGMDs. The results of this meeting were compiled into a report that has been shared with the FDA and drug developers.